Ptosis, and Falls

Diseases related with Ptosis and Falls

In the following list you will find some of the most common rare diseases related to Ptosis and Falls that can help you solving undiagnosed cases.


Top matches:

High match MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13


Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Belaya et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 Is also known as myasthenic syndrome, congenital, with tubular aggregates 2|cmsta2

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13

High match 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY


6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY Is also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY

High match PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME


PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

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Other less relevant matches:

High match TUBULAR AGGREGATE MYOPATHY


Related symptoms:

  • Intellectual disability
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBULAR AGGREGATE MYOPATHY

High match MYOPATHY, TUBULAR AGGREGATE, 1; TAM1


Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate MyopathySee also TAM2 (OMIM ), caused by mutation in the ORAI1 gene (OMIM ) on chromosome 12q24.

MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 Is also known as tubular aggregate myopathy|myopathy, tubular aggregate|tam

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Dysarthria
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, TUBULAR AGGREGATE, 1; TAM1

High match VERVERI-BRADY SYNDROME; VERBRAS


Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

High match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

High match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

High match MYOPATHY, MYOFIBRILLAR, 8; MFM8


Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 8; MFM8

High match KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME


Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Ptosis and Falls

Symptoms // Phenotype % cases
Frequent falls Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ptosis and Falls. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Low-set ears Gowers sign Elevated serum creatine phosphokinase Myopathy Micrognathia High palate Scoliosis Easy fatigability Centrally nucleated skeletal muscle fibers Feeding difficulties Global developmental delay Poor head control Dysphagia Motor delay

Rare Symptoms - Less than 30% cases


Delayed speech and language development Myalgia Distal muscle weakness Muscle cramps Generalized muscle weakness Type 2 muscle fiber atrophy Difficulty climbing stairs Dystonia Ataxia Fatigable weakness Areflexia of lower limbs Abnormal pupil morphology Increased variability in muscle fiber diameter Ophthalmoplegia Respiratory insufficiency Progressive muscle weakness Difficulty running Recurrent respiratory infections Microcephaly Hypertelorism Abnormal facial shape Seizures Thin upper lip vermilion Autistic behavior Everted lower lip vermilion Respiratory tract infection Neonatal hypotonia Difficulty walking Areflexia Spinal rigidity Myoclonus Choreoathetosis Hypertension Nemaline bodies Peripheral neuropathy Long philtrum Bulbous nose Clinodactyly Pectus excavatum Abnormality of the dentition Behavioral abnormality Hypoplasia of the corpus callosum Cerebral atrophy Encephalopathy Cardiomyopathy Posteriorly rotated ears Hyperactivity Short neck High forehead Intellectual disability, severe Macrocephaly Downslanted palpebral fissures Low posterior hairline Thoracolumbar scoliosis Mild short stature Apnea Bilateral ptosis Arthrogryposis multiplex congenita Long face Dental malocclusion Decreased fetal movement Gastroesophageal reflux Narrow palpebral fissure Poor suck Multiple joint contractures Underdeveloped nasal alae Prominent occiput Webbed neck Weak cry Depressed nasal bridge Short stature Aggressive behavior EEG abnormality Pes cavus Enlarged cisterna magna Dental crowding Peripheral axonal neuropathy Mandibular prognathia Feeding difficulties in infancy Facial palsy Pes planus Acetabular dysplasia Atonic seizures Generalized tonic seizures Hyporeflexia Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy CNS infection Abnormality of the periventricular white matter Cervical C2/C3 vertebral fusion EEG with focal sharp slow waves Gingival overgrowth Reduced vital capacity Mental deterioration Generalized tonic-clonic seizures Generalized myoclonic seizures Myofibrillar myopathy Focal-onset seizure Epileptic encephalopathy Intellectual disability, progressive Tall stature Tented upper lip vermilion Progressive proximal muscle weakness Relative macrocephaly Neck muscle weakness Generalized amyotrophy Nasal speech Scapular winging Fused cervical vertebrae Pain Respiratory distress Apraxia Muscular hypotonia of the trunk Abnormality of the eye Developmental regression Abnormality of eye movement Stage 5 chronic kidney disease Dyskinesia Nephropathy Amblyopia Cognitive impairment Truncal ataxia Oculomotor apraxia Nephritis Hyperkalemia Limb hypertonia Loss of speech Tubulointerstitial nephritis Hyperechogenic kidneys Renal insufficiency Strabismus Visual impairment Bradykinesia Muscular hypotonia Hyperreflexia Hypertonia Depressivity Rigidity Pallor Chorea Abnormality of extrapyramidal motor function Oculogyric crisis Hypsarrhythmia Clonus Hyperkinesis Agitation Opisthotonus Restlessness Drowsiness Excessive salivation Camptocormia Foot dorsiflexor weakness Wide nasal bridge Wide mouth Intrauterine growth retardation Tremor Intellectual disability, mild Upslanted palpebral fissure Brachycephaly Autism Abnormality of the nervous system Smooth philtrum Weakness of the intrinsic hand muscles Unsteady gait Wide nose Broad nasal tip Prominent nose Intention tremor Cupped ear Mildly elevated creatine phosphokinase Impaired social interactions Growth delay Hyporeflexia of lower limbs Hypocalcemia Nyctalopia EMG: myopathic abnormalities Ankle contracture Miosis Fatiguable weakness of proximal limb muscles Muscle fiber tubular inclusions Dysarthria Fatigue Limb muscle weakness Exercise-induced myalgia Lower limb muscle weakness Muscle stiffness Elbow flexion contracture External ophthalmoplegia Ophthalmoparesis Proximal amyotrophy Limb-girdle muscle weakness Achilles tendon contracture Limitation of neck motion



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